Cognitive and psychological characteristics of the patients harbouring GGC repeat expansion in NOTCH2NLC
| Patient | MMSE* | MoCA† | TMT‡ | HADS§ | AD8¶ | BNT** | ||
| A | B | A | D | |||||
| 1 | 25 | 15 | 74 | 140 | 8 | 4 | 3 | 16 |
| 2 | 17 | 11 | 236 | NA | 18 | 11 | 2 | 12 |
| 3 | 25 | 17 | 87 | 156 | 5 | 4 | 3 | 15 |
| 4 | 26 | 18 | 61 | NA | 9 | 13 | 4 | 19 |
| 5 | 28 | 26 | 90 | 168 | 14 | 8 | 1 | 19 |
| 6 | 27 | 24 | 30 | NA | 1 | 6 | 1 | 20 |
| 7 | 18 | 11 | 152 | NA | 3 | 4 | 4 | 18 |
| 8 | 27 | 25 | 156 | 330 | 10 | 8 | 7 | 16 |
| 9 | 27 | 24 | 42 | 72 | 8 | 4 | 0 | 19 |
*MMSE: a score of 27–30 indicates normal; 21–26 indicates mildly impaired cognitive function; 10–20 indicates moderately impaired cognitive function; 0–9 indicates severely impaired cognitive function.
†MoCA: a score below 26 suggests impaired cognitive function.
‡TMT: the results of both TMT A and B were recorded as the number of seconds required to complete the test, a TMT A score higher than 78 reveals deficient cognitive function, a TMT B score higher than 273 reveals deficient cognitive function.
§HADS: HADS-A, evaluating anxiety; HADS-D, evaluating depression. A score of 0–7 indicates asymptomatic (normal and mild); 8–10 indicates anxiety or depression probably present (moderate); 11–21 indicates anxiety or depression definitely present (severe).
¶AD8: a score higher than or equal to 2 suggests possible cognitive impairment.
**BNT: 20-items version.
AD8, Ascertain Dementia 8-item Questionnaire; BNT, Boston naming test; HADS, Hospital Anxiety and Depression Scale; MMSE, Mini-Mental State Examination; MoCA, Montreal Cognitive Assessment; NA, not available; TMT A&B, Trial Making Test A and B.